Canonical Allele Identifier: PA2828059416
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64746
ClinVar RCV Id: RCV000054928 RCV004018980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met201Ile
CA008456
NM_001362177.1:c.603G>A
CA375368658
NM_001362177.1:c.603G>T
CA375368659
NM_001362177.1:c.603G>C